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NM_000545.8(HNF1A):c.313dup (p.Glu105fs) AND Maturity-onset diabetes of the young type 3

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 18, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000030498.3

Allele description [Variation Report for NM_000545.8(HNF1A):c.313dup (p.Glu105fs)]

NM_000545.8(HNF1A):c.313dup (p.Glu105fs)

Gene:
HNF1A:HNF1 homeobox A [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
12q24.31
Genomic location:
Preferred name:
NM_000545.8(HNF1A):c.313dup (p.Glu105fs)
Other names:
NM_000545.8(HNF1A):c.313dup; p.Glu105fs
HGVS:
  • NC_000012.12:g.120979081dup
  • NG_011731.2:g.5336dup
  • NM_000545.8:c.313dupMANE SELECT
  • NM_001306179.2:c.313dup
  • NP_000536.6:p.Glu105fs
  • NP_001293108.2:p.Glu105fs
  • LRG_522t1:c.313dup
  • LRG_522:g.5336dup
  • NC_000012.11:g.121416884dup
  • NM_000545.5:c.313dupG
  • p.Glu105GlyfsX83
Protein change:
E105fs
Links:
dbSNP: rs193922594
NCBI 1000 Genomes Browser:
rs193922594
Molecular consequence:
  • NM_000545.8:c.313dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001306179.2:c.313dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Maturity-onset diabetes of the young type 3
Synonyms:
Diabetes mellitus MODY type 3; MODY hepatocyte nuclear factor-1-alpha related; MODY type 3; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010894; MedGen: C1838100; Orphanet: 552; OMIM: 600496

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000053169Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		likely pathogenic
(Aug 18, 2011) 		germlinecuration, clinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedcuration
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000053169.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
2not providednot providednot providednot providedclinical testingnot provided

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodassert pathogenicitynot providednot providednot providednot provided
2germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 2

Co-occurrences

#ZygosityAllelesNumber of Observations
2SingleHeterozygoteHNF4A:c.116-5C>T, TCF1:c.1720A>G1

Last Updated: Nov 29, 2022